Bone Abstracts

Context: Primary hyperparathyroidism (PHPT) in children is thought to be extremely rare. We reviewed our experience with PHPT to better characterize these patients.

Objective and methods: A total of 62 patients (<18 years) treated in our hospital were respectively analysed to summarize the clinical characterization and molecular genetics in this rare condition in Chinese. The study was approved by the local Ethics Committee of our center.

Results: The mean onset age of the subjects was 14.3±2.8 years with an average duration of course of 3±2.1 years. The female-to-male ratio was 1.3:1. Among them, eight patients(13%) were clinically diagnosed as MEN-1. Fifty-eight patients (94%) were symptomatic with target-organ damage (bone involvement, nephrolithiasis/nephrocalcinosis or acute pancreatitis). Bone involvement, urolithiasis, and acute pancreatitis were presented in 51 cases (82%), 23 cases (37%), and four cases (7%), respectively. Six patients (10%) experienced hypercalcemic crisis. Serum calcium was elevated in all patients with a mean value of 3.14±1.17 mmol/l. The mean value of serum PTH was 865.66±838.70 pg/ml. Sixty patients underwent surgeries. Solitary adenomas, multiple adenomas, hyperplasia and atypical adenoma occurred in 43 (72%), 5 (8%), 9 (15%), and 3 (5%) cases, respectively. No carcinoma was observed. No permanent complication was observed for all patients postoperatively, except for four cases of recurrence. MEN-1 and CDC73 mutation analysis were performed in 25 patients. Four patients were found to carry MEN-1 mutuations and six patients were found to carry CDC73 mutuations, with a total mutation rate of 40%.

Conclusion: Symptoms of PHPT in children are often more severe and more common than in adults. These patients can be successfully treated surgically like adults. The most common pathology of children with PHPT was adenomas. Mutations of MEN1 and CDC73 genes were recommended for a relative high mutation rate.